Canonical Allele Identifier: CA8314809

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs749267498
• ExAC: 17:4836531 A / ACCT
• gnomAD v2: 17-4836531-A-ACCT
• gnomAD v3: 17-4933236-A-ACCT
• gnomAD v4: 17-4933236-A-ACCT
• MyVariant Identifiers: chr17:g.4836531_4836532insCCT (hg19) ; chr17:g.4933236_4933237insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933240_4933242dup , CM000679.2:g.4933240_4933242dup	GRCh38
NC_000017.10:g.4836535_4836537dup , CM000679.1:g.4836535_4836537dup	GRCh37
NC_000017.9:g.4777315_4777317dup	NCBI36
NG_008767.2:g.5946_5948dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.636_638dup (GP1BA) MANE Select	ENSP00000329380.5:p.Leu213_Pro214insLeu
ENST00000649830.1:c.-888+1103_-888+1105dup (CHRNE)	ENSP00000496907.1:n.-888+1103_-888+1105dup
ENST00000329125.5:c.636_638dup (GP1BA)	ENSP00000329380.5:p.Leu213_Pro214insLeu
ENST00000611961.1:c.636_638dup (GP1BA)	ENSP00000484439.1:p.Leu213_Pro214insLeu
NM_000173.6:c.636_638dup (GP1BA)	NP_000164.5:p.Leu213_Pro214insLeu
NM_000173.7:c.636_638dup (GP1BA) MANE Select	NP_000164.5:p.Leu213_Pro214insLeu